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"Osimani, S."
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Multicentric Italian case–control study on 25OH vitamin D levels in children and adolescents with Prader-Willi syndrome
2023
Purpose
25OHD levels in patients with Prader-Willi Syndrome (PWS), the most frequent cause of genetic obesity with a peculiar fat mass distribution, are still debated. Insulin resistance (IR), Body Mass Index-SDS (BMI-SDS), Growth Hormone Therapy (GHT), and puberty onset seem to interact with 25OHD levels. The objectives of the study are: (1) To analyze 25OHD levels in pediatric PWS patients in comparison with a control group (CNT) (2) To evaluate a possible correlation between BMI-SDS, HOMA-IR, puberty, GHT, and 25OHD levels.
Methods
This is a retrospective case–control, multicenter study. Data were collected among 8 different Italian Hospitals (outpatient clinics), over a period of four years (2016–2020). We included 192 genetically confirmed PWS and 192 CNT patients, aged 3–18 years, matched 1:1 for age, gender, BMI-SDS, Tanner stage, sun exposure, and month of recruitment.
Results
No statistically significant differences in 25OHD levels were observed between the PWS population and the CNT (PWS 24.0 ng/mL vs CNT 22.5 ng/mL,
p
> 0.05), OR = 0.89 (95% CI 0.58–1.35). We observed a slight, although non-significant, reduction in 25OHD levels comparing NW and OB populations. HOMA-IR, puberty onset, genotype and GHT (previous or ongoing) did not show statistically significant correlation with 25OHD levels.
Conclusions
Our findings could be useful for clinicians to optimize the therapeutic management as well as to increase awareness of PWS.
Journal Article
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
by
Klaus M
,
Pierpont ME
,
Rossi M
in
[SDV]Life Sciences [q-bio]
,
Abnormalities, Multiple
,
Abnormalities, Multiple - diagnosis
2015
Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode β- and γ-actins. We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six cases from the literature with a molecularly proven actinopathy (9 ACTG1 and 33 ACTB). The major clinical anomalies are striking dysmorphic facial features with hypertelorism, broad nose with large tip and prominent root, congenital non-myopathic ptosis, ridged metopic suture and arched eyebrows. Iris or retinal coloboma is present in many cases, as is sensorineural deafness. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Nearly all patients with ACTG1 mutations, and around 60% of those with ACTB mutations have some degree of pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Reduction of shoulder girdle muscle bulk and progressive joint stiffness is common. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Progressive, severe dystonia was seen in one family. Intellectual disability and epilepsy are variable in severity and largely correlate with CNS anomalies. One patient developed acute lymphocytic leukemia, and another a cutaneous lymphoma, indicating that actinopathies may be cancer-predisposing disorders. Considering the multifaceted role of actins in cell physiology, we hypothesize that some clinical manifestations may be partially mutation specific. Baraitser-Winter cerebrofrontofacial syndrome is our suggested designation for this clinical entity.
Journal Article
Vegetable By-Products from Industrial Processing: From Waste to Functional Ingredient Through Fermentation
by
Marcelli, Andrea
,
Osimani, Andrea
,
Aquilanti, Lucia
in
Animal feed
,
anti-nutritional factors
,
Bacteria
2025
In recent decades, the rapid expansion of the food processing industry has led to significant losses and waste, with the fruit and vegetable sector among the most affected. According to the Food and Agriculture Organization of the United Nations (FAO), losses in this category can reach up to 60%. Vegetable waste includes edible parts discarded during processing, packaging, distribution, and consumption, often comprising by-products rich in bioactive compounds such as polyphenols, carotenoids, dietary fibers, vitamins, and enzymes. The underutilization of these resources constitutes both an economic drawback and an environmental and ethical concern. Current recovery practices, including their use in animal feed or bioenergy production, contribute to a circular economy but are often limited by high operational costs. In this context, fermentation has emerged as a promising, sustainable approach for converting vegetable by-products into value-added food ingredients. This process improves digestibility, reduces undesirable compounds, and introduces probiotics beneficial to human health. The present review examines how fermentation can improve the nutritional, sensory, and functional properties of plant-based foods. By presenting several case studies, it illustrates how fermentation can effectively valorize vegetable processing by-products, supporting the development of novel, health-promoting food products with improved technological qualities.
Journal Article
Latarjet procedure for anterior shoulder instability: a 24-year follow-up study
by
Salate Santone Francesco
,
Osimani Marcello
,
Paglialunga Carlo
in
Arthritis
,
Ligaments
,
Osteoarthritis
2021
IntroductionDifferent surgical techniques (open and arthroscopic) have been described for the treatment of post-traumatic recurrent anterior instability. The aim of the surgery is to restore when possible, normal shoulder anatomy by repairing the underlying pathology responsible for the instability. Sometimes other surgical techniques are indicated. The purpose of this retrospective study was to investigate the long-term clinical and radiographic results and complications of the open Latarjet procedure after a minimum follow-up of 24 years.Materials and methodsA retrospective study was performed for 67 patients treated with an open Latarjet procedure in a single center. Forty of these 67 patients returned for follow-up evaluation and clinical/radiological examination during the year 2018, having had a minimum of 24-year follow-up. Clinical outcomes were analyzed using two functional scores, in addition to the ROM and strength assessment. Radiographic evaluation included several views (AP views in neutral, internal and external rotation and a comparative Bernageau view)ResultsA total of 40 patients underwent an open Latarjet procedure. All the patients were avaible for follow-up at an average of 25.6 years. Clinically, no patient reported any episode of dislocation at the time of follow-up. The mean Rowe score and the Walch–Duplay score were 84.5 (range 45–100) and 83.5 (range 55–100), respectively. Non-union/fibrous union was reported in 12.5% of cases, partial resorption of the graft was found in 7.5% of cases, while total resorption was found in 5% of cases. Osteoarthritis was identified in 52.5% (21) of the patients.ConclusionsThis long-term follow-up study demonstrated that the open Latarjet procedure is a safe and reliable technique for recurrent anterior shoulder instability. The Latarjet procedure provides good long-term stability although associated with a slight limitation in external rotation.Level of evidenceLevel III; retrospective cohort comparison; treatment study
Journal Article
Protein fortification with mealworm (Tenebrio molitor L.) powder: Effect on textural, microbiological, nutritional and sensory features of bread
by
Aquilanti, Lucia
,
Van Buitenen, Anse
,
Roncolini, Andrea
in
Amino acids
,
Animals
,
Biology and Life Sciences
2019
In the present study, inclusion of mealworm (Tenebrio molitor L.) powder into bread doughs at 5 and 10% substitution level of soft wheat (Triticum aestivum L.) flour was tested to produce protein fortified breads. The addition of mealworm powder (MP) did not negatively affect the technological features of either doughs or breads. All the tested doughs showed the same leavening ability, whereas breads containing 5% MP showed the highest specific volume and the lowest firmness. An enrichment in protein content was observed in experimental breads where the highest values for this parameter were recorded in breads containing 10% MP. Breads fortified with 10% MP also exhibited a significant increase in the content of free amino acids, and especially in the following essential amino acids: tyrosine, methionine, isoleucine, and leucine. By contrast, no differences in nutritional quality of lipids were seen between fortified and control breads. Results of sensory analyses revealed that protein fortification of bread with MP significantly affected bread texture and overall liking, as well as crust colour, depending on the substitution level. Overall, proof of concept was provided for the inclusion of MP into bread doughs started with different leavening agents (sourdough and/or baker's yeast), at 5 or 10% substitution level of soft wheat flour. Based on the Technology Readiness Level (TRL) scale, the proposed bread making technology can be situated at level 4 (validation in laboratory environment), thus suggesting that the production of breads with MP might easily be scaled up at industrial level. However, potential spoilage and safety issues that need to be further considered were highlighted.
Journal Article
Fermentation of Microalgal Biomass for Innovative Food Production
2022
Fermentation is an ancient method used worldwide to process and preserve food while enhancing its nutraceutical profile. Alga-based fermented products have recently been developed and tested due to growing interest in healthy sustainable diets, which demands the development of innovative practices in food production, operating for both human health and Earth sustainability. Algae, particularly microalgae such as Arthrospira platensis, Chlorella vulgaris, and Dunaliella salina, are already cultivated as sources of food due to their valuable compounds, including proteins, pigments, lipids, carotenoids, polyunsaturated fatty acids, steroids, and vitamins. Due to their nutritional composition, functional diversity, and flexible metabolism, microalgae represent good fermentation substrates for lactic acid bacteria (LAB) and yeasts. This review presents an overview of the scientific studies on microalga fermentation underlining microalgae’s properties and health benefits coupled with the advantages of LAB and yeast fermentation. The potential applications of and future perspectives on such functional foods are discussed.
Journal Article
Physiological responses of Siberian sturgeon (Acipenser baerii) juveniles fed on full-fat insect-based diet in an aquaponic system
by
Zarantoniello, Matteo
,
Girolametti, Federico
,
Cardinaletti, Gloriana
in
631/1647/2017/2003
,
631/443/319
,
631/601/1737
2021
Over the last years, the potential use of Black Soldier Fly meal (BSF) as a new and sustainable aquafeed ingredient has been largely explored in several fish species. However, only fragmentary information is available about the use of BSF meal-based diets in sturgeon nutrition. In consideration of a circular economy concept and a more sustainable aquaculture development, the present research represents the first comprehensive multidisciplinary study on the physiological effects of a BSF diet during sturgeon culture in an aquaponic system. Siberian sturgeon (
Acipenser baerii
) juveniles were fed over a 60-days feeding trial on a control diet (Hi0) and a diet containing 50% of full-fat BSF meal respect to fish meal (Hi50). Physiological responses of fish were investigated using several analytical approaches, such as gas chromatography-mass spectrometry, histology, Fourier Transformed Infrared Spectroscopy (FTIR), microbiome sequencing and Real-time PCR. While aquaponic systems performed optimally during the trial, Hi50 group fish showed lower diet acceptance that resulted in growth and survival reduction, a decrease in hepatic lipids and glycogen content (FTIR), a higher hepatic
hsp70.1
gene expression and a worsening in gut histological morphometric parameters. The low feed acceptance showed by Hi50 group sturgeon highlighted the necessity to improve the palatability of BSF-based diet designed for sturgeon culture.
Journal Article
Sea Fennel (Crithmum maritimum L.) as an Emerging Crop for the Manufacturing of Innovative Foods and Nutraceuticals
2023
Sea fennel (Crithmum maritimum L.) is a perennial, strongly aromatic herb that has been used since ancient times in cuisine and folk medicine due to its renowned properties. Recently described as a “cash” crop, sea fennel is an ideal candidate for the promotion of halophyte agriculture in the Mediterranean basin due to its acknowledged adaptation to the Mediterranean climate, its resilience to risks/shocks related to climate changes, and its exploitability in food and non-food applications, which generates an alternative source of employment in rural areas. The present review provides insight into the nutritional and functional traits of this new crop as well as its exploitation in innovative food and nutraceutical applications. Various previous studies have fully demonstrated the high biological and nutritional potential of sea fennel, highlighting its high content of bioactive compounds, including polyphenols, carotenoids, ω-3 and ω-6 essential fatty acids, minerals, vitamins, and essential oils. Moreover, in previous studies, this aromatic halophyte showed good potential for application in the manufacturing of high-value foods, including both fermented and unfermented preserves, sauces, powders, and spices, herbal infusions and decoctions, and even edible films, as well as nutraceuticals. Further research efforts are needed to fully disclose the potential of this halophyte in view of its full exploitation by the food and nutraceutical industries.
Journal Article
From Tradition to Innovation: The Role of Sea Fennel in Shaping Kimchi’s Microbial, Chemical, and Sensory Profiles
by
Raffo, Antonio
,
Aquilanti, Lucia
,
Kraouia, Maryem
in
Amino acids
,
Bacteria
,
Brassica - chemistry
2025
Kimchi, a traditional fermented product made primarily with Chinese cabbage, develops its characteristic flavor through microbial activity and a variety of ingredients. This study explores the incorporation of sea fennel (Crithmum maritimum L.), a halophytic plant rich in bioactive compounds and known for its distinctive aroma, into kimchi. Two fermentation methods were compared: spontaneous fermentation and fermentation using a defined starter culture of four lactic acid bacteria strains. Fermentation was conducted at 4 °C for 26 days, with samples monitored for up to 150 days. Parameters analyzed included pH, titratable acidity, microbial counts, organic acid concentrations, volatile organic compounds (VOCs), and sensory attributes. In the early stages, notable differences in acidity, microbial populations, and VOCs were observed between the two methods, but these differences diminished over time. Sensory analysis indicated similar overall characteristics for both prototypes, although the sea fennel’s aroma and fibrous texture remained perceptible at day 150. VOCs analysis revealed that the fermentation time significantly affected the composition of key aroma compounds, contributing to the final sensory profile. Sea fennel played a key role in shaping the VOC profile and imparting a distinctive aromatic quality. Both fermentation methods led to similar enhancements in flavor and product quality. These findings support the use of sea fennel as an aromatic ingredient in fermented vegetables and highlight the importance of fermentation optimization.
Journal Article